Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs9486715 | 6 | 96611893 | intron variant | A/C | snv | 0.36 | 1 | ||||
rs9490318 | 6 | 121539061 | downstream gene variant | C/T | snv | 0.16 | 1 | ||||
rs1835740 | 0.882 | 0.040 | 8 | 97154685 | intergenic variant | T/C | snv | 0.75 | 5 | ||
rs2651899 | 0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv | 5 | |||
rs12134493 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 4 | ||
rs3761422 | 1.000 | 0.040 | 22 | 24430704 | intron variant | T/C | snv | 0.62 | 4 | ||
rs2072806 | 1.000 | 0.040 | 6 | 26384865 | intron variant | C/G | snv | 7.7E-02 | 2 | ||
rs11172113 | 0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 | 10 | ||
rs2530223 | 1.000 | 0.080 | 5 | 141634927 | synonymous variant | T/C | snv | 0.62 | 0.68 | 2 | |
rs886041091 | 0.807 | 0.120 | 9 | 84751990 | missense variant | A/G | snv | 18 | |||
rs1563452941 | 0.882 | 0.120 | 8 | 42437137 | stop gained | C/A | snv | 13 | |||
rs1676486 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 7 | ||
rs150299874 | 1.000 | 0.120 | 14 | 50302901 | splice donor variant | C/T | snv | 1.2E-05 | 7.0E-06 | 5 | |
rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 37 | ||
rs368900406 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 27 | |
rs375817528 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 25 | |
rs6296 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 23 | |
rs1564691414 | 0.925 | 0.160 | 10 | 89007698 | splice acceptor variant | A/G | snv | 7 | |||
rs6275 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 7 | |
rs1518110 | 0.851 | 0.160 | 1 | 206771516 | intron variant | A/C;T | snv | 5 | |||
rs9349379 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 19 | ||
rs867770797 | 0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv | 8 | |||
rs344781 | 0.807 | 0.200 | 19 | 43670636 | upstream gene variant | C/T | snv | 0.80 | 7 | ||
rs606231435 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 18 | |||
rs866445127 | 0.851 | 0.240 | 17 | 31352348 | stop gained | C/T | snv | 7 |